Research Project
Grant-in-Aid for Young Scientists (B)
Pyrimidine degradation disorder was diagnosed using urine and blood sample from the patients who presented severe 5-FU side effect. Determination of pyrimidine and pyrimidine metabolite in urine was performed by UPLC-MS/MS. The diagnosis of dihydropyrimidine dehydrogenase(DPD) deficiency, dihydropyrimidinase(DHP) deficiency, β-ureidopropionase(βUP) deficiency, was made based on the pattern of the result of pyrimidine metabolite analysis. The stable method of DPD activity in peripheral blood mononuclear cells (PBMC) was established. Decreased DPD activity of 20% of control was detected in the patients with normal urinary pyrimidine metabolite analysis.Our procedure of screening test for pyrimidine degradation disorders was successfully worked so it is expected to expanding screening test before 5-FU administration.
All 2017
All Journal Article (2 results) (of which Int'l Joint Research: 1 results, Peer Reviewed: 2 results, Open Access: 2 results)
Molecular genetics and metabolism
Volume: 122 Pages: 216-222
Brain and Development
Volume: 39 Issue: 1 Pages: 58-61
10.1016/j.braindev.2016.08.001